PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894183
rs104894183
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. 11179007 2001
dbSNP: rs104894183
rs104894183
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		0.800 GeneticVariation UNIPROT Perforin gene defects in familial hemophagocytic lymphohistiocytosis. 10583959 1999
dbSNP: rs104894183
rs104894183
Entrez Id: 5551
Gene Symbol: PRF1
PRF1
CUI: C1863727
Disease:
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2 		C 0.800 CausalMutation CLINVAR